Varaico: Literature-Extracted Genetic Variants

Gene:ARHGAP23
Variant:p.P838L

ARHGAP23

83 papers

RefSeq Summary

The RHO (see ARHA; MIM 165390) family of small GTPases are involved in signal transduction through transmembrane receptors, and they are inactive in the GDP-bound form and active in the GTP-bound form...

Pfam Domains

PDZ_6aa 99–151UCSCPDZ domain
PH_9aa 690–806UCSCPleckstrin homology domain
RhoGAPaa 920–1069UCSCRhoGAP domain

Gene Aliases

HGNC Name

Rho GTPase activating protein 23

HGNC Alias Symbol

KIAA1501

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_001199417.2
p.P838L
c.2513C>T
Surrounding Variants
1 paper
NM_001199417.2
p.P838fs
c.2512_2513fs
1 paper
NM_001199417.2
p.P838_K839delFs
c.2512_2515del4
1 paper
NM_001199417.2
p.D841Y
c.2521G>T
1 paper
NM_001199417.2
p.N827N
c.2481C>T
1 paper
NM_001199417.2
p.F788S
c.2363T>C
1 paper
NM_001199417.2
p.A745G
c.2234C>G
1 paper
NM_001199417.2
p.A745V
c.2234C>T
1 paper
NM_001199417.2
p.R733Q
c.2198G>A
1 paper
NM_001199417.2
p.R725C
c.2173C>T
1 paper
NM_001199417.2
p.R723L
c.2168G>T
1 paper
NM_001199417.2
p.A902V
c.2705C>T
1 paper
NM_001199417.2
p.G934R
c.2800G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."